|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
MGD |
Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.
|
19273592 |
2009 |
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
MGD |
A murine model of neonatal diabetes mellitus in Glis3-deficient mice.
|
19481545 |
2009 |
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
|
16715098 |
2006 |
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
|
16715098 |
2006 |
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
|
12966531 |
2003 |
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the GLIS3 gene have been typically associated with Neonatal Diabetes and Congenital Hypothyroidism (CH) in a syndrome called NDH.
|
31797737 |
2020 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
With the exception of four SNPs (CMIP rs16955379, PEPD rs3786897, PSMD6 rs831571, ZFAND3 rs9470794), the other SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports, especially GLIS3 rs7041847 and KCNK16 rs1535500 were significantly associated with type 2 diabetes (rs1535500: p=0.005, OR=1.224, 95% CI 1.062-1.409; rs7041847: p=0.035, OR=1.118, 95% CI 1.070-1.388).
|
31145772 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five SNPs exhibited associations with pediatric-onset T2D in the combined case-parent trio and case-control analysis: LINGO/rs10968576 (odds ratio [OR] 1.82, P = 0.003), POC5/rs2112347 (OR 1.96, P = 2.4E-5), RPS10-NUDT3/rs206936 (OR 1.40, P = 0.023), GLIS3/rs7034200 (OR 2.34, P = 1.2E-6), and VEGFA/rs6905288 (OR 1.58, P = 0.015).
|
30652413 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HHEX, HMGA2, GLIS3, MTNR1B and PARK2) and some overlap with SNPs associated with T2D (e.g. rs3821943 near WFS1 and rs508419 near ANK1).
|
31123324 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rare missense variants in GLIS3 associates nominally with increased level of HbA1c and increased risk of developing type 2 diabetes.
|
31415576 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Congenital Hypothyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of GLIS3 function in humans and mice leads to the development of several pathologies, including neonatal diabetes and congenital hypothyroidism, polycystic kidney disease, and infertility.
|
29779043 |
2018 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.
|
29146476 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.
|
28736931 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Single nucleotide polymorphisms in GLIS3 genes have been associated with increased risk of several diseases, including type 1 and type 2 diabetes, glaucoma, and neurological disorders.
|
29779043 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Naturally-occurring coding polymorphisms in Glis3 in the Goto-Kakizaki rat model of type 2 diabetes were associated with increased insulin production in vitro and in vivo, suggestive alteration of autophagy in PC12 and INS1 and abnormal neurogenesis in hippocampus neurons.
|
28911974 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China.
|
28215547 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date.
|
28253873 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation.
|
28648506 |
2017 |